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THAP8 THAP domain containing 8 [ Homo sapiens (human) ]

Gene ID: 199745, updated on 16-Mar-2024

Summary

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Official Symbol
THAP8provided by HGNC
Official Full Name
THAP domain containing 8provided by HGNC
Primary source
HGNC:HGNC:23191
See related
Ensembl:ENSG00000161277 MIM:612536; AllianceGenome:HGNC:23191
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable DNA binding activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.3), endometrium (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

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See THAP8 in Genome Data Viewer
Location:
19q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36034984..36054762, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38580785..38600561, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36525886..36545664, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14514 Neighboring gene alkB homolog 6 Neighboring gene CAP-Gly domain containing linker protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36526501-36526674 Neighboring gene RNY5 pseudogene 10 Neighboring gene WD repeat domain 62 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36591509-36592010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36601644-36602274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36602275-36602904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36604761-36605272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14515 Neighboring gene ovo like zinc finger 3 Neighboring gene RNA polymerase II subunit I

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. Roussigne M, et al. Trends Biochem Sci, 2003 Feb. PMID 12575992
  2. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
  3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32891

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
THAP domain-containing protein 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001331102.2 → NP_001318031.1  THAP domain-containing protein 8 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC002116, AD000813, JQ410992
    UniProtKB/TrEMBL
    H9CWI5

  2. NM_001331103.2 → NP_001318032.1  THAP domain-containing protein 8 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC002116, AK296640, JQ410992
    UniProtKB/TrEMBL
    B4DKM9, H9CWI5

  3. NM_001331104.1 → NP_001318033.1  THAP domain-containing protein 8 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC002116, AD000813
    UniProtKB/TrEMBL
    B4DKM9, H9CWI5

  4. NM_152658.3 → NP_689871.1  THAP domain-containing protein 8 isoform a

    See identical proteins and their annotated locations for NP_689871.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC002116, AK093048
    Consensus CDS
    CCDS33000.1
    UniProtKB/Swiss-Prot
    Q0P5Z7, Q8NA92, Q96M21
    UniProtKB/TrEMBL
    H9CWI5
    Related
    ENSP00000292894.1, ENST00000292894.2
    Conserved Domains (1) summary
    smart00980
    Location:4 → 86
    THAP; The THAP domain is a putative DNA-binding domain (DBD) and probably also binds a zinc ion

RNA

  1. NR_138539.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC002116, AK297630, JQ410992

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    36034984..36054762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    38580785..38600561 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NA92.1 GenPept UniProtKB/Swiss-Prot:Q8NA92

Gene LinkOut

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